Canonical Allele Identifier: CA597904982

Gene: OTOG

Linked Data

• ClinVar Variation Id: 1066421
• ClinVar RCV Id: RCV001377414
• dbSNP Id: rs1203130034
• gnomAD v2: 11-17633876-CTG-C
• gnomAD v4: 11-17612329-CTG-C
• MyVariant Identifiers: chr11:g.17633877_17633878del (hg19) ; chr11:g.17612330_17612331del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612332_17612333del , CM000673.2:g.17612332_17612333del	GRCh38
NC_000011.9:g.17633879_17633880del , CM000673.1:g.17633879_17633880del	GRCh37
NC_000011.8:g.17590455_17590456del	NCBI36
NG_033191.1:g.69960_69961del
NG_033191.2:g.69960_69961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6328+2_6328+3del
ENST00000399397.6:c.6292+2_6292+3del
ENST00000342528.2:c.3346+2_3346+3del
ENST00000399391.6:c.6328+2_6328+3del
ENST00000399397.5:c.6292+2_6292+3del
NM_001277269.1:c.6328+2_6328+3del
NM_001292063.1:c.6292+2_6292+3del
NM_001277269.2:c.6328+2_6328+3del
NM_001292063.2:c.6292+2_6292+3del